Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 1.000 3 2004 2012
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2005 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2009 2015
dbSNP: rs4977574
rs4977574
CDKN2B-AS1
26 0.695 0.520 9 22098575 intron variant A/G;T snv 0.020 1.000 2 2013 2014
dbSNP: rs11638352
rs11638352
FRMD5
2 0.925 0.040 15 44000939 intron variant C/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1187513719
rs1187513719
CYP2C19
4 0.851 0.200 10 94780595 missense variant A/G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1234314
rs1234314
TNFSF4
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1265538677
rs1265538677
CPB2 ; CPB2-AS1
10 0.790 0.200 13 46055808 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs138741635
rs138741635
FHIT
2 0.925 0.040 3 60942161 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs147642358
rs147642358
ARPC1A
1 1.000 0.040 7 99335136 intron variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs16985615
rs16985615
LOC107985383
2 1.000 0.040 20 23661790 intron variant T/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs17817449
rs17817449
FTO
21 0.716 0.560 16 53779455 intron variant T/A;G snv 0.010 1.000 1 2010 2010
dbSNP: rs1800470
rs1800470
TGFB1
107 0.515 0.840 19 41353016 missense variant G/A;C snv 0.55; 2.4E-04 0.010 1.000 1 2012 2012
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2009 2009
dbSNP: rs190543502
rs190543502
TP53BP1
2 0.925 0.040 15 43464986 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs201394051
rs201394051 		2 0.925 0.040 5 117697919 intergenic variant TA/-;TATA;TATATA delins 0.700 1.000 1 2017 2017
dbSNP: rs2075252
rs2075252
LRP2
5 0.925 0.160 2 169154475 stop gained T/A;C snv 0.76 0.010 1.000 1 2020 2020
dbSNP: rs2227983
rs2227983
EGFR
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2008 2008
dbSNP: rs2733201
rs2733201
FRMD5
2 0.925 0.040 15 44116203 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs2768759
rs2768759 		4 0.851 0.200 1 156882671 downstream gene variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs4244285
rs4244285
CYP2C19
18 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 0.010 1.000 1 2019 2019
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2020 2020
dbSNP: rs4668123
rs4668123
LRP2
6 0.851 0.280 2 169196995 missense variant C/A;G;T snv 0.010 1.000 1 2020 2020